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Journal Abstract Search

335 related items for PubMed ID: 31370276

  • 1. Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
    Giugliano T, Santoro C, Torella A, Del Vecchio Blanco F, Grandone A, Onore ME, Melone MAB, Straccia G, Melis D, Piccolo V, Limongelli G, Buono S, Perrotta S, Nigro V, Piluso G.
    Genes (Basel); 2019 Jul 31; 10(8):. PubMed ID: 31370276
    [Abstract] [Full Text] [Related]

  • 2. Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.
    Evans DG, Bowers N, Burkitt-Wright E, Miles E, Garg S, Scott-Kitching V, Penman-Splitt M, Dobbie A, Howard E, Ealing J, Vassalo G, Wallace AJ, Newman W, Northern UK NF1 Research Network, Huson SM.
    EBioMedicine; 2016 May 31; 7():212-20. PubMed ID: 27322474
    [Abstract] [Full Text] [Related]

  • 3. One NF1 Mutation may Conceal Another.
    Pacot L, Burin des Roziers C, Laurendeau I, Briand-Suleau A, Coustier A, Mayard T, Tlemsani C, Faivre L, Thomas Q, Rodriguez D, Blesson S, Dollfus H, Muller YG, Parfait B, Vidaud M, Gilbert-Dussardier B, Yardin C, Dauriat B, Derancourt C, Vidaud D, Pasmant E.
    Genes (Basel); 2019 Aug 22; 10(9):. PubMed ID: 31443423
    [Abstract] [Full Text] [Related]

  • 4. Legius Syndrome and its Relationship with Neurofibromatosis Type 1.
    Denayer E, Legius E.
    Acta Derm Venereol; 2020 Mar 25; 100(7):adv00093. PubMed ID: 32147744
    [Abstract] [Full Text] [Related]

  • 5. Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.
    Hirata Y, Brems H, Suzuki M, Kanamori M, Okada M, Morita R, Llano-Rivas I, Ose T, Messiaen L, Legius E, Yoshimura A.
    J Biol Chem; 2016 Feb 12; 291(7):3124-34. PubMed ID: 26635368
    [Abstract] [Full Text] [Related]

  • 6. Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.
    Stewart DR, Brems H, Gomes AG, Ruppert SL, Callens T, Williams J, Claes K, Bober MB, Hachen R, Kaban LB, Li H, Lin A, McDonald M, Melancon S, Ortenberg J, Radtke HB, Samson I, Saul RA, Shen J, Siqveland E, Toler TL, van Maarle M, Wallace M, Williams M, Legius E, Messiaen L.
    Genet Med; 2014 Jun 12; 16(6):448-59. PubMed ID: 24232412
    [Abstract] [Full Text] [Related]

  • 7. Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.
    Castellanos E, Rosas I, Negro A, Gel B, Alibés A, Baena N, Pineda M, Pi G, Pintos G, Salvador H, Lázaro C, Blanco I, Vilageliu L, Brems H, Grinberg D, Legius E, Serra E.
    Clin Genet; 2020 Feb 12; 97(2):264-275. PubMed ID: 31573083
    [Abstract] [Full Text] [Related]

  • 8. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
    Messiaen L, Yao S, Brems H, Callens T, Sathienkijkanchai A, Denayer E, Spencer E, Arn P, Babovic-Vuksanovic D, Bay C, Bobele G, Cohen BH, Escobar L, Eunpu D, Grebe T, Greenstein R, Hachen R, Irons M, Kronn D, Lemire E, Leppig K, Lim C, McDonald M, Narayanan V, Pearn A, Pedersen R, Powell B, Shapiro LR, Skidmore D, Tegay D, Thiese H, Zackai EH, Vijzelaar R, Taniguchi K, Ayada T, Okamoto F, Yoshimura A, Parret A, Korf B, Legius E.
    JAMA; 2009 Nov 18; 302(19):2111-8. PubMed ID: 19920235
    [Abstract] [Full Text] [Related]

  • 9. Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients.
    Bianchessi D, Ibba MC, Saletti V, Blasa S, Langella T, Paterra R, Cagnoli GA, Melloni G, Scuvera G, Natacci F, Cesaretti C, Finocchiaro G, Eoli M.
    Genes (Basel); 2020 Jun 19; 11(6):. PubMed ID: 32575496
    [Abstract] [Full Text] [Related]

  • 10. Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children.
    Yao R, Wang L, Yu Y, Wang J, Shen Y.
    J Dermatol; 2016 May 19; 43(5):537-42. PubMed ID: 26458495
    [Abstract] [Full Text] [Related]

  • 11. Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype?
    Pabst L, Carroll J, Lo W, Truxal KV.
    Am J Med Genet A; 2021 Jan 19; 185(1):223-227. PubMed ID: 33078527
    [Abstract] [Full Text] [Related]

  • 12. Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.
    Brems H, Legius E.
    Keio J Med; 2013 Jan 19; 62(4):107-12. PubMed ID: 24334617
    [Abstract] [Full Text] [Related]

  • 13. Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia.
    Banerjee S, Lei D, Liang S, Yang L, Liu S, Wei Z, Tang JP.
    Oncotarget; 2017 Jun 13; 8(24):39695-39702. PubMed ID: 27980226
    [Abstract] [Full Text] [Related]

  • 14. SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia.
    Pasmant E, Gilbert-Dussardier B, Petit A, de Laval B, Luscan A, Gruber A, Lapillonne H, Deswarte C, Goussard P, Laurendeau I, Uzan B, Pflumio F, Brizard F, Vabres P, Naguibvena I, Fasola S, Millot F, Porteu F, Vidaud D, Landman-Parker J, Ballerini P.
    Oncogene; 2015 Jan 29; 34(5):631-8. PubMed ID: 24469042
    [Abstract] [Full Text] [Related]

  • 15. Pathogenic Mutations Associated with Legius Syndrome Modify the Spred1 Surface and Are Involved in Direct Binding to the Ras Inactivator Neurofibromin.
    Führer S, Tollinger M, Dunzendorfer-Matt T.
    J Mol Biol; 2019 Sep 06; 431(19):3889-3899. PubMed ID: 31401120
    [Abstract] [Full Text] [Related]

  • 16. An Update on Neurofibromatosis Type 1: Not Just Café-au-Lait Spots, Freckling, and Neurofibromas. An Update. Part I. Dermatological Clinical Criteria Diagnostic of the Disease.
    Hernández-Martín A, Duat-Rodríguez A.
    Actas Dermosifiliogr; 2016 Sep 06; 107(6):454-64. PubMed ID: 26979265
    [Abstract] [Full Text] [Related]

  • 17. Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1.
    Witkowski L, Dillon MW, Murphy E, S Lebo M, Mason-Suares H.
    Mol Genet Genomic Med; 2020 Apr 06; 8(4):e1180. PubMed ID: 32107864
    [Abstract] [Full Text] [Related]

  • 18. Mutation spectrum of the NF1 gene and genotype-phenotype correlations in Turkish patients: Seventeen novel pathogenic variants.
    Ece Solmaz A, Isik E, Atik T, Ozkinay F, Onay H.
    Clin Neurol Neurosurg; 2021 Sep 06; 208():106884. PubMed ID: 34418705
    [Abstract] [Full Text] [Related]

  • 19. Epilepsy in Legius syndrome: Coincidence or causation?
    Medina Lemus A, Boelman C, Myers KA.
    Am J Med Genet A; 2024 Jun 06; 194(6):e63547. PubMed ID: 38268057
    [Abstract] [Full Text] [Related]

  • 20. Café-au-lait Macules and Neurofibromatosis Type 1: A Review of the Literature.
    Bernier A, Larbrisseau A, Perreault S.
    Pediatr Neurol; 2016 Jul 06; 60():24-29.e1. PubMed ID: 27212418
    [Abstract] [Full Text] [Related]

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